Unraveling the thrombophilia paradox: From hypercoagulability to the prothrombotic state

Journal of Thrombosis and Haemostasis

Volumn 8, Issue 2, 2010, Pages 228-233

  Baglin, T ^a  

^a ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ANTITHROMBIN; BLOOD CLOTTING FACTOR 5; D DIMER; PROTEIN C; PROTEIN S; THROMBIN;

ANTITHROMBIN DEFICIENCY; ATTRIBUTABLE RISK; DIAGNOSTIC TEST; ENVIRONMENTAL FACTOR; GENE MUTATION; GENETIC RISK; HERITABLE THROMBOPHILIA; HIGH RISK PATIENT; HUMAN; HYPERCOAGULABILITY; PRIORITY JOURNAL; PROTEIN C DEFICIENCY; PROTEIN S DEFICIENCY; RECURRENCE RISK; REVIEW; RISK FACTOR; THROMBOPHILIA; VEIN THROMBOSIS;

ANTITHROMBINS; BLOOD COAGULATION; BLOOD COAGULATION TESTS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; PHENOTYPE; PREDICTIVE VALUE OF TESTS; PROTEIN C DEFICIENCY; PROTEIN S DEFICIENCY; RECURRENCE; RISK ASSESSMENT; RISK FACTORS; THROMBOPHILIA; THROMBOSIS;

EID: 74749103195     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2009.03702.x     Document Type: Review

References (41)

1. Egeberg O. Inherited antithrombin deficiency causing thrombophilia. Thromb Diath Haemorrh 1965, 13:516-30.
2. Griffin JH, Evatt B, Zimmerman TS, Kleiss AJ, Wideman C. Deficiency of protein C in congenital thrombotic disease. J Clin Invest 1981, 68:1370-3.
3. Comp PC, Nixon RR, Cooper MR, Esmon CT. Familial protein S deficiency is associated with recurrent thrombosis. J Clin Invest 1984, 74:2082-8.
4. Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, van der Velden PA, Reitsma PH. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994, 369:64-7.
5. Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. A common genetic variation in the 3′-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 1996, 88:3698-703.
6. Reitsma PH, Rosendaal FR. Past and future of genetic research in thrombosis. J Thromb Haemost 2007, 5(Suppl. 1):264-9.
7. Bucciarelli P, Rosendaal FR, Tripodi A, Mannucci PM, De Stefano V, Palareti G, Finazzi G, Baudo F, Quintavalla R. Risk of venous thromboembolism and clinical manifestations in carriers of antithrombin, protein C, protein S deficiency, or activated protein C resistance: a multicenter collaborative family study. Arterioscler Thromb Vasc Biol 1999, 19:1026-33.
8. De Stefano V, Simioni P, Rossi E, Tormene D, Za T, Pagnan A, Leone G. The risk of recurrent venous thromboembolism in patients with inherited deficiency of natural anticoagulants antithrombin, protein C and protein S. Haematologica 2006, 91:695-8.
9. Pabinger I, Schneider B. Thrombotic risk in hereditary antithrombin III, protein C, or protein S deficiency. A cooperative, retrospective study. Gesellschaft fur Thrombose- und Hamostaseforschung (GTH) Study Group on Natural Inhibitors. Arterioscler Thromb Vasc Biol 1996, 16:742-8.
10. Vossen CY, Walker ID, Svensson P, Souto JC, Scharrer I, Preston FE, Palareti G, Pabinger I, van der Meer FJ, Makris M, Fontcuberta J, Conard J, Rosendaal FR. Recurrence rate after a first venous thrombosis in patients with familial thrombophilia. Arterioscler Thromb Vasc Biol 2005, 25:1992-7.
11. Greaves M, Baglin T. Laboratory testing for heritable thrombophilia: impact on clinical management of thrombotic disease. Br J Haematol 2000, 109:699-703.
12. Baglin T, Luddington R, Brown K, Baglin C. Incidence of recurrent venous thromboembolism in relation to clinical and thrombophilic risk factors: prospective cohort study. Lancet 2003, 362:523-6.
13. Christiansen SC, Cannegieter SC, Koster T, Vandenbroucke JP, Rosendaal FR. Thrombophilia, clinical factors, and recurrent venous thrombotic events. JAMA 2005, 293:2352-61.
14. Marchiori A, Mosena L, Prins MH, Prandoni P. The risk of recurrent venous thromboembolism among heterozygous carriers of factor V Leiden or prothrombin G20210A mutation. A systematic review of prospective studies. Haematologica 2007, 92:1107-14.
15. Middeldorp S, van Hylckama Vlieg A. Does thrombophilia testing help in the clinical management of patients? Br J Haematol 2008, 143:321-35.
16. Coppens M, Reijnders JH, Middeldorp S, Doggen CJ, Rosendaal FR. Testing for inherited thrombophilia does not reduce recurrence of venous thrombosis. J Thromb Haemost 2008, 6:1474-7.
17. Allaart CF, Poort SR, Rosendaal FR, Reitsma PH, Bertina RM, Briet E. Increased risk of venous thrombosis in carriers of hereditary protein C deficiency defect. Lancet 1993, 341:134-8.
18. Jennings I, Kitchen S, Woods TA, Preston FE. Multilaboratory testing in thrombophilia through the United Kingdom National External Quality Assessment Scheme (Blood Coagulation) Quality Assurance Program. Semin Thromb Hemost 2005, 31:66-72.
19. Kearon C, Gent M, Hirsh J, Weitz J, Kovacs MJ, Anderson DR, Turpie AG, Green D, Ginsberg JS, Wells P, MacKinnon B, Julian JA. A comparison of three months of anticoagulation with extended anticoagulation for a first episode of idiopathic venous thromboembolism. N Engl J Med 1999, 340:901-7.
20. Levine MN, Hirsh J, Gent M, Turpie AG, Weitz J, Ginsberg J, Geerts W, LeClerc J, Neemeh J, Powers P, Piovella F. Optimal duration of oral anticoagulant therapy: a randomized trial comparing four weeks with three months of warfarin in patients with proximal deep vein thrombosis. Thromb Haemost 1995, 74:606-11.
21. Pinede L, Ninet J, Duhaut P, Chabaud S, Demolombe-Rague S, Durieu I, Nony P, Sanson C, Boissel JP. Comparison of 3 and 6 months of oral anticoagulant therapy after a first episode of proximal deep vein thrombosis or pulmonary embolism and comparison of 6 and 12 weeks of therapy after isolated calf deep vein thrombosis. Circulation 2001, 103:2453-60.
22. Prandoni P, Lensing AW, Cogo A, Cuppini S, Villalta S, Carta M, Cattelan AM, Polistena P, Bernardi E, Prins MH. The long-term clinical course of acute deep venous thrombosis. Ann Intern Med 1996, 125:1-7.
23. Schulman S, Rhedin AS, Lindmarker P, Carlsson A, Larfars G, Nicol P, Loogna E, Svensson E, Ljungberg B, Walter H. A comparison of six weeks with six months of oral anticoagulant therapy after a first episode of venous thromboembolism. Duration of Anticoagulation Trial Study Group. N Engl J Med 1995, 332:1661-5.
24. Baglin T, Palmer C, Luddington R, Baglin C. Unprovoked recurrent venous thrombosis: prediction by D-dimer and clinical risk factors. J Thromb Haemost 2008, 6:577-82.
25. Bezemer ID, Bare LA, Doggen CJ, Arellano AR, Tong C, Rowland CM, Catanese J, Young BA, Reitsma PH, Devlin JJ, Rosendaal FR. Gene variants associated with deep vein thrombosis. JAMA 2008, 299:1306-14.
26. van Hylckama Vlieg A, Baglin CA, Bare LA, Rosendaal FR, Baglin TP. Proof of principle of potential clinical utility of multiple SNP analysis for prediction of recurrent venous thrombosis. J Thromb Haemost 2008, 6:751-4.
27. van Boven HH, Vandenbroucke JP, Briet E, Rosendaal FR. Gene-gene and gene-environment interactions determine risk of thrombosis in families with inherited antithrombin deficiency. Blood 1999, 94:2590-4.
28. Lensen RP, Bertina RM, de Ronde H, Vandenbroucke JP, Rosendaal FR. Venous thrombotic risk in family members of unselected individuals with factor V Leiden. Thromb Haemost 2000, 83:817-21.
29. Lensen RP, Rosendaal FR, Koster T, Allaart CF, de Ronde H, Vandenbroucke JP, Reitsma PH, Bertina RM. Apparent different thrombotic tendency in patients with factor V Leiden and protein C deficiency due to selection of patients. Blood 1996, 88:4205-8.
30. Baglin T, Gray E, Greaves M, Hunt B, Keeling D, Machin S, Mackie I, Makris M, Nokes T, Perry D, Tait R, Walker I, Watson H. Clinical guidelines for testing for heritable thrombophilia. Br J Haematol
31. Lijfering WM, Brouwer JL, Veeger NJ, Bank I, Coppens M, Middeldorp S, Hamulyak K, Prins MH, Buller HR, van der Meer J. Selective testing for thrombophilia in patients with first venous thrombosis. Results from a retrospective family cohort study on absolute thrombotic risk for currently known thrombophilic defects in 2479 relatives. Blood 2009, 113:5314-22.
32. Palareti G, Cosmi B, Legnani C, Tosetto A, Brusi C, Iorio A, Pengo V, Ghirarduzzi A, Pattacini C, Testa S, Lensing AW, Tripodi A. D-dimer testing to determine the duration of anticoagulation therapy. N Engl J Med 2006, 355:1780-9.
33. Palareti G, Legnani C, Cosmi B, Guazzaloca G, Pancani C, Coccheri S. Risk of venous thromboembolism recurrence: high negative predictive value of D-dimer performed after oral anticoagulation is stopped. Thromb Haemost 2002, 87:7-12.
34. Palareti G, Legnani C, Cosmi B, Valdre L, Lunghi B, Bernardi F, Coccheri S. Predictive value of D-dimer test for recurrent venous thromboembolism after anticoagulation withdrawal in subjects with a previous idiopathic event and in carriers of congenital thrombophilia. Circulation 2003, 108:313-8.
35. Verhovsek M, Douketis JD, Yi Q, Shrivastava S, Tait RC, Baglin T, Poli D, Lim W. Systematic review: D-dimer to predict recurrent disease after stopping anticoagulant therapy for unprovoked venous thromboembolism. Ann Intern Med 2008, 149:481-90. W94
36. Besser M, Baglin C, Luddington R, van Hylckama Vlieg A, Baglin T. High rate of unprovoked recurrent venous thrombosis is associated with high thrombin-generating potential in a prospective cohort study. J Thromb Haemost 2008, 6:1720-5.
37. Hron G, Kollars M, Binder BR, Eichinger S, Kyrle PA. Identification of patients at low risk for recurrent venous thromboembolism by measuring thrombin generation. JAMA 2006, 296:397-402.
38. Tripodi A, Legnani C, Chantarangkul V, Cosmi B, Palareti G, Mannucci PM. High thrombin generation measured in the presence of thrombomodulin is associated with an increased risk of recurrent venous thromboembolism. J Thromb Haemost 2008, 6:1327-33.
39. Eichinger S, Hron G, Kollars M, Kyrle PA. Prediction of recurrent venous thromboembolism by endogenous thrombin potential and D-dimer. Clin Chem 2008, 54:2042-8.
40. Baglin T. The measurement and application of thrombin generation. Br J Haematol 2005, 130:653-61.
41. van Hylckama Vlieg A, Rosendaal FR, Baglin CA, Luddington R, Baglin T. Thrombophilia, hypercoagulability, and environment, and the risk of venous thrombo-embolism (THE-VTE study). J Thromb Haemost 2009, 7(Suppl. 2):PP-MO-289.